Canonical Allele Identifier: CA375450782
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137623396G>C (hg19) chr9:g.134731550G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731550G>C , CM000671.2:g.134731550G>C GRCh38
NC_000009.11:g.137623396G>C , CM000671.1:g.137623396G>C GRCh37
NC_000009.10:g.136763217G>C NCBI36
NG_008030.1:g.94745G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1219G>C ENSP00000360885.4:p.Glu407Gln
ENST00000371817.8:c.1219G>C MANE Select ENSP00000360882.3:p.Glu407Gln
ENST00000371817.7:c.1219G>C ENSP00000360882.3:p.Glu407Gln
ENST00000618395.4:c.1219G>C ENSP00000481360.1:p.Glu407Gln
NM_000093.4:c.1219G>C NP_000084.3:p.Glu407Gln
NM_001278074.1:c.1219G>C NP_001265003.1:p.Glu407Gln
XR_929712.1:n.1621G>C
XR_929713.1:n.1621G>C
XM_017014266.2:c.1219G>C XP_016869755.1:p.Glu407Gln
XR_001746183.1:n.1617G>C
NM_000093.5:c.1219G>C MANE Select NP_000084.3:p.Glu407Gln
Search 100 bp 5'
Search 100 bp 3'